Monosomy X - NIPT False Positive
Hello Everyone,
Just wanted to post here if anybody is going through the same situation like we did!
On April 16th - 13th week of pregnancy I got back my NIPT result which stated that the baby has some sex chromosome aneuplodies. It stated that the X chromosomes were lower in number than usual. We also got a Z score of -9.62, which was very high as the threshold was -3. It stated that the baby may have mosacism or Turners.The same day we went and spoke to the OBGYN and she had absolutely no context and told us that there are high chances that there is something wrong as it's flagged high.
Our hearts sank..this is our first pregnancy and we have been dreaming about this since the beginning of this journey.
Somehow my instinct told me that I can't trust the institute or the doctor and my baby is absolutely fine. We earlier had our NT scan and there was nothing abnormal sighted.
Next week we got another NIPT done from a different company, although from the research we knew it's of not much value, and amnio is the only way out. I was in my 14th week. In parallel we scheduled an amnio for the 16th week.
By the end of 14th week, we got the result of the second NIPT and it said low risk for everything, and this was genome wide NIPT, claims to be better than the usual one. This gave us a ray of hope.
On the 16th week, got my amnio done, it didn't hurt much except for the cramping when the needle really goes into the uterus. As the baby was moving a lot they had to insert the needle twice and they got the fluid. The entire procedure from the scan till the time I was out took 1 hour. I just had some numbness at the place they pricked the needle, nothing apart from that.
We had to get two results post amnio - rapid NGS and Karyotype. The doctor recommended that microarray isnt required so we dint get that done and plus it wasn't insurance covered. The rapid NGS was supposed to come in 48hours, but even after 3 days we dint get any response and finally they told us due to noise in the fluid they couldn't conclude anything.
Some dreadful 10 days after we finally on a Sunday got the first NGS result, because they had to culture the cells even for NGS. And on a Monday we got Karyotype..and our baby is completely healthy :)
From April 16th to May 18th..I have come to this sub and read so many stories and re-read them again and again. Glad to have this community and this place has really given me some mental peace and hope.
Hope this post helps the parents going through limbo and anxiety like we did! Feel free to reach in case of any doubts!